In 2018, He Jiankui uploaded a series of videos to a YouTube channel titled “The He Lab” that detailed one of the first instances of a successful human birth after genome editing had been performed on an embryo using CRISPR-cas9. CRISPR-cas9 is a genome editing tool derived from bacteria that can be used to cut out and replace specific sequences of DNA. He genetically modified embryos at his lab in Shenzhen, China, to make them immune to contracting HIV through indirect perinatal transmission from their father, who was infected with the virus. HIV is a virus that attacks the immune cells of its host and weakens their ability to fight off diseases. At the time of He’s experiment, various treatments already existed at that could prevent the fetuses from contracting HIV without the need for gene surgery. Nonetheless, He’s experiment led to one of the first successful births of fetuses resulting from genetically modified embryos. He kept his experiment secret until he uploaded the videos announcing the birth of the fetuses, born as two twin girls. The experiment discussed in the videos was successful, but many scientists criticized the experiment due to ethical concerns with the way He conducted it.
In a series of experiments in the late 1970s, Alec J. Jeffreys in the UK and Richard A. Flavell in the Netherlands developed a technique to detect variations in the DNA of different individuals. They compared fragments of DNA from individuals’ beta-globin genes, which produce a protein in hemoglobin. Previously, to identify biological material, scientists focused on proteins rather than on genes. But evidence about proteins enabled scientists only to exclude, but not to identify, individuals as the sources of the biological samples. By 1979, Jeffrey’s experiments on beta-globin genes shifted the analytical approach of scientific identification from proteins to genes to identify an individual’s genetic identity. The ability to match a person to a biological sample developed in the 1980s and impacted many fields including paternity testing, forensics, immigration, and body identification.
Luc Montagnier studied viruses, the immune system, and cancer in France during the second half of the twentieth century. In his early career, Montagnier studied how cancer-causing viruses replicate and infect host cells. He received the Nobel Prize in Physiology or Medicine in 2008 for his team’s discovery that a retrovirus, human immunodeficiency virus, or HIV, was the cause of acquired immunodeficiency syndrome, or AIDS. AIDS is a chronic condition that results from HIV infection and damages the immune system. People who have AIDS typically experience increased vulnerability to a variety of diseases. Before Montagnier’s research on the virus, the exact cause of AIDS remained unknown to researchers and healthcare professionals. Beyond discovering HIV as the cause of AIDS, Montagnier’s work advanced a general understanding of how viral infection affects the immune system of the host organism.
In the US during the late 1960s, Stanley Alan Plotkin, John D. Farquhar, Michael Katz, and Fritz Buser isolated a strain of the infectious disease rubella and developed a rubella vaccine with a weakened, or attenuated, version of the virus strain. Rubella, also called German measles, is a highly contagious disease caused by the rubella virus that generally causes mild rashes and fever. However, in pregnant women, rubella infections can lead to developmental defects in their fetuses. Plotkin and his collaborators weakened a strain of rubella, called RA 27/3, by growing the virus in WI-38 cells, a strain of human embryonic cells developed at the Wistar Institute by Leonard Hayflick in the early 1960s. Their research led to the development of a rubella vaccine, which prevented rubella in children and congenital rubella syndrome in the fetuses of pregnant women who had contracted rubella.
In 1995, researchers Ann Burke, Craig Nelson, Bruce Morgan, and Cliff Tabin in the US studied the genes that regulate the construction of vertebra in developing chick and mouse embryos, they showed similar patterns of gene regulation across both species, and they concluded that those patterns were inherited from an ancestor common to all vertebrate animals. The group analyzed the head-to-tail (anterior-posterior) axial development of vertebrates, as the anterior-posterior axis showed variation between species over the course of evolutionary time. Along those axes, they showed where Hox genes produced RNAs. Hox genes have the homeobox, a portion of DNA contributes to the generation of the body plans of animals, plants, and fungi. In the 1995 study, the researchers compared the expression patterns of Hox genes across the chick and mouse embryos, showing where the patterns were similar and where they differed. Based on those comparisons, they argued that Hox genes were present in the ancestors of tetrapods and fishes, and that Hox genes function in the segmentation of the anterior-posterior vertebrate axis in both chick and mouse embryos.
From 1963 to 1982, researchers in New York City, New York, carried out a randomized trial of mammography screening. Mammography is the use of X-ray technology to find breast cancer at early stages. The private insurance company Health Insurance Plan of Greater New York, or HIP, collaborated with researchers Sam Shapiro, Philip Strax, and Louis Venet on the trial. The researchers’ goal was to determine whether mammography screening reduced breast cancer mortality in women. The study included sixty thousand women aged forty to sixty-four. Half of the women received two annual breast examinations that involved mammography, a breast exam, and an interview. The rest of the women were not invited for annual examinations. After follow up, the researchers found that of the women who received the examinations, thirty percent fewer died from breast cancer than the women who did not receive any examinations. The HIP trial was one of the first large-scale clinical trials to provide evidence that mammography screenings helped prevent breast cancer deaths in women.
Barbara McClintock conducted experiments on corn (Zea mays) in the United States in the mid-twentieth century to study the structure and function of the chromosomes in the cells. McClintock researched how genes combined in corn and proposed mechanisms for how those interactions are regulated. McClintock received the Nobel Prize in Physiology or Medicine in 1983, the first woman to win the prize without sharing it. McClintock won the award for her introduction of the concept of transposons, also called jumping genes. McClintock conceptualized some genetic material as not static in structure and order, but as subject to re-arrangement and may be altered during development.
Leonard Hayflick in the US during the early 1960s showed that normal populations of embryonic cells divide a finite number of times. He published his results as 'The Limited In Vitro Lifetime of Human Diploid Cell Strains' in 1964. Hayflick performed the experiment with WI-38 fetal lung cells, named after the Wistar Institute, in Philadelphia, Pennsylvania, where Hayflick worked. Frank MacFarlane Burnet, later called the limit in capacity for cellular division the Hayflick Limit in 1974. In the experiment, Hayflick refuted Alexis Carrel's hypothesis that cells could be transplanted and multiplied indefinitely from a single parent cell line.
In 1893, Julia Barlow Platt published her research on the origins of cartilage in the developing head of the common mudpuppy (Necturus maculosus) embryo. The mudpuppy is an aquatic salamander commonly used by embryologists because its large embryonic cells and nuclei are easy to see. Platt followed the paths of cells in developing mudpuppy embryos to see how embryonic cells migrated during the formation of the head. With her research, Platt challenged then current theories about germ layers, the types of cells in an early embryo that develop into adult cells. In most organisms' development, three types of germ layers are responsible for the formation of tissues and organs. The outermost layer is called ectoderm, the middle layer mesoderm, and the innermost layer endoderm, although Platt called it entoderm. Platt's research provided a basis for scientists to clarify the destination or function of the germ layers in vertebrates' development.
In the late 1990s researchers Yuk Ming Dennis Lo and his colleagues isolated fetal DNA extracted from pregnant woman’s blood. The technique enabled for more efficient and less invasive diagnoses of genetic abnormalities in fetuses, such as having too many copies of chromosomes. Lo’s team published their results in 1997’s “Presence of Fetal DNA in Maternal Plasma and Serum.” The results led to developments of clinical tests that can access fetal genetic information and detect genetic abnormalities before birth without the significant risks that can potentially harm the fetus associated with invasive genetic testing techniques.